Incidental Mutation 'IGL03219:Senp2'
ID |
413592 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Senp2
|
Ensembl Gene |
ENSMUSG00000022855 |
Gene Name |
SUMO/sentrin specific peptidase 2 |
Synonyms |
4930538C18Rik, 2310007L05Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03219
|
Quality Score |
|
Status
|
|
Chromosome |
16 |
Chromosomal Location |
21828234-21868019 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 21833014 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000156326
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023561]
[ENSMUST00000231632]
[ENSMUST00000231724]
[ENSMUST00000232534]
[ENSMUST00000232679]
|
AlphaFold |
Q91ZX6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000023561
|
SMART Domains |
Protein: ENSMUSP00000023561 Gene: ENSMUSG00000022855
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
40 |
N/A |
INTRINSIC |
low complexity region
|
101 |
118 |
N/A |
INTRINSIC |
low complexity region
|
325 |
340 |
N/A |
INTRINSIC |
Pfam:Peptidase_C48
|
408 |
587 |
1.5e-40 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231408
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231632
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231724
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231798
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232534
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000232679
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SUMO1 (UBL1; MIM 601912) is a small ubiquitin-like protein that can be covalently conjugated to other proteins. SENP2 is one of a group of enzymes that process newly synthesized SUMO1 into the conjugatable form and catalyze the deconjugation of SUMO1-containing species.[supplied by OMIM, Apr 2004] PHENOTYPE: Homozygous null mice are embryonic lethal due to placental defects resulting from abnormal trophoblast maturation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Clasp2 |
T |
C |
9: 113,677,545 (GRCm39) |
|
probably benign |
Het |
Ctss |
C |
T |
3: 95,450,411 (GRCm39) |
R121W |
possibly damaging |
Het |
Cyp2c67 |
A |
T |
19: 39,631,738 (GRCm39) |
M153K |
possibly damaging |
Het |
Cyp2d34 |
T |
C |
15: 82,502,740 (GRCm39) |
H162R |
probably benign |
Het |
Dynlrb2 |
A |
T |
8: 117,241,635 (GRCm39) |
I60F |
probably benign |
Het |
E4f1 |
C |
T |
17: 24,664,419 (GRCm39) |
|
probably null |
Het |
Fzd6 |
T |
A |
15: 38,894,971 (GRCm39) |
V379E |
probably damaging |
Het |
Galnt13 |
T |
C |
2: 54,823,447 (GRCm39) |
V341A |
possibly damaging |
Het |
Hip1 |
T |
C |
5: 135,485,904 (GRCm39) |
S100G |
probably benign |
Het |
Ncapd3 |
T |
C |
9: 26,975,169 (GRCm39) |
|
probably benign |
Het |
Obox3 |
G |
A |
7: 15,359,803 (GRCm39) |
L289F |
probably damaging |
Het |
Or52s6 |
C |
T |
7: 103,091,745 (GRCm39) |
G195E |
possibly damaging |
Het |
Or8b50 |
G |
T |
9: 38,518,247 (GRCm39) |
C162F |
probably benign |
Het |
Pkhd1l1 |
G |
A |
15: 44,460,291 (GRCm39) |
E4167K |
possibly damaging |
Het |
Pphln1 |
T |
C |
15: 93,363,136 (GRCm39) |
|
probably benign |
Het |
Ranbp6 |
A |
T |
19: 29,787,680 (GRCm39) |
W891R |
probably damaging |
Het |
Rgs22 |
A |
T |
15: 36,107,194 (GRCm39) |
L64Q |
probably damaging |
Het |
Ripor2 |
A |
T |
13: 24,907,702 (GRCm39) |
Y991F |
probably damaging |
Het |
Slc44a3 |
G |
A |
3: 121,257,169 (GRCm39) |
T508I |
probably damaging |
Het |
Tdrd6 |
T |
C |
17: 43,938,855 (GRCm39) |
D731G |
probably benign |
Het |
Thnsl1 |
T |
A |
2: 21,217,217 (GRCm39) |
C324S |
probably benign |
Het |
Tnfrsf11b |
A |
T |
15: 54,117,574 (GRCm39) |
L227* |
probably null |
Het |
Tulp4 |
T |
C |
17: 6,189,285 (GRCm39) |
C36R |
probably damaging |
Het |
|
Other mutations in Senp2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00788:Senp2
|
APN |
16 |
21,837,114 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01562:Senp2
|
APN |
16 |
21,828,437 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01757:Senp2
|
APN |
16 |
21,828,414 (GRCm39) |
missense |
probably benign |
0.13 |
IGL02593:Senp2
|
APN |
16 |
21,863,021 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02896:Senp2
|
APN |
16 |
21,837,118 (GRCm39) |
nonsense |
probably null |
|
IGL03244:Senp2
|
APN |
16 |
21,859,329 (GRCm39) |
missense |
probably damaging |
0.97 |
Jessie
|
UTSW |
16 |
21,837,114 (GRCm39) |
missense |
probably damaging |
1.00 |
wrangler
|
UTSW |
16 |
21,847,344 (GRCm39) |
critical splice donor site |
probably null |
|
wrestler
|
UTSW |
16 |
21,857,372 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT1430001:Senp2
|
UTSW |
16 |
21,832,864 (GRCm39) |
splice site |
probably benign |
|
R0410:Senp2
|
UTSW |
16 |
21,828,444 (GRCm39) |
missense |
probably damaging |
0.99 |
R0511:Senp2
|
UTSW |
16 |
21,855,320 (GRCm39) |
missense |
probably benign |
0.01 |
R1186:Senp2
|
UTSW |
16 |
21,830,254 (GRCm39) |
missense |
probably damaging |
0.99 |
R1689:Senp2
|
UTSW |
16 |
21,845,416 (GRCm39) |
missense |
probably damaging |
0.98 |
R1723:Senp2
|
UTSW |
16 |
21,846,792 (GRCm39) |
missense |
probably benign |
0.00 |
R1776:Senp2
|
UTSW |
16 |
21,861,810 (GRCm39) |
splice site |
probably benign |
|
R2056:Senp2
|
UTSW |
16 |
21,832,949 (GRCm39) |
missense |
probably damaging |
1.00 |
R2058:Senp2
|
UTSW |
16 |
21,832,949 (GRCm39) |
missense |
probably damaging |
1.00 |
R2371:Senp2
|
UTSW |
16 |
21,837,125 (GRCm39) |
missense |
possibly damaging |
0.86 |
R3838:Senp2
|
UTSW |
16 |
21,828,485 (GRCm39) |
missense |
probably damaging |
0.99 |
R3839:Senp2
|
UTSW |
16 |
21,828,485 (GRCm39) |
missense |
probably damaging |
0.99 |
R4001:Senp2
|
UTSW |
16 |
21,847,318 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4190:Senp2
|
UTSW |
16 |
21,865,417 (GRCm39) |
missense |
probably damaging |
1.00 |
R4191:Senp2
|
UTSW |
16 |
21,865,417 (GRCm39) |
missense |
probably damaging |
1.00 |
R4193:Senp2
|
UTSW |
16 |
21,865,417 (GRCm39) |
missense |
probably damaging |
1.00 |
R4231:Senp2
|
UTSW |
16 |
21,830,304 (GRCm39) |
critical splice donor site |
probably null |
|
R4435:Senp2
|
UTSW |
16 |
21,832,991 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4847:Senp2
|
UTSW |
16 |
21,857,386 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5207:Senp2
|
UTSW |
16 |
21,860,130 (GRCm39) |
missense |
possibly damaging |
0.52 |
R5509:Senp2
|
UTSW |
16 |
21,859,272 (GRCm39) |
missense |
probably damaging |
1.00 |
R6036:Senp2
|
UTSW |
16 |
21,847,308 (GRCm39) |
nonsense |
probably null |
|
R6036:Senp2
|
UTSW |
16 |
21,847,308 (GRCm39) |
nonsense |
probably null |
|
R6475:Senp2
|
UTSW |
16 |
21,842,550 (GRCm39) |
missense |
probably damaging |
1.00 |
R6517:Senp2
|
UTSW |
16 |
21,845,474 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6923:Senp2
|
UTSW |
16 |
21,830,326 (GRCm39) |
intron |
probably benign |
|
R7287:Senp2
|
UTSW |
16 |
21,837,114 (GRCm39) |
missense |
probably damaging |
1.00 |
R7747:Senp2
|
UTSW |
16 |
21,857,372 (GRCm39) |
missense |
probably damaging |
1.00 |
R7884:Senp2
|
UTSW |
16 |
21,832,981 (GRCm39) |
missense |
probably benign |
0.39 |
R8037:Senp2
|
UTSW |
16 |
21,832,888 (GRCm39) |
nonsense |
probably null |
|
R8393:Senp2
|
UTSW |
16 |
21,850,864 (GRCm39) |
missense |
probably damaging |
0.99 |
R8805:Senp2
|
UTSW |
16 |
21,846,789 (GRCm39) |
missense |
probably benign |
|
R9216:Senp2
|
UTSW |
16 |
21,847,344 (GRCm39) |
critical splice donor site |
probably null |
|
R9426:Senp2
|
UTSW |
16 |
21,828,491 (GRCm39) |
missense |
probably damaging |
0.98 |
R9479:Senp2
|
UTSW |
16 |
21,842,398 (GRCm39) |
missense |
probably damaging |
0.99 |
R9592:Senp2
|
UTSW |
16 |
21,845,435 (GRCm39) |
missense |
possibly damaging |
0.54 |
Z1177:Senp2
|
UTSW |
16 |
21,828,455 (GRCm39) |
missense |
probably benign |
0.44 |
|
Posted On |
2016-08-02 |